Rare Diseases And Orphan Drugs – Landscape & Forecast – Disease Landscape & Forecast
Approximately 80% of rare diseases have a genetic etiology. Gene therapies have the potential to transform the treatment of rare diseases and may provide a functional cure for some. However, these innovative treatments must come with equally innovative programs to optimize access in a global healthcare market that is still grappling with how to fairly assess their value and absorb their higher upfront costs. Nonetheless, the pipeline for gene therapies is burgeoning, as large pharmaceutical companies (e.g., Pfizer, Roche, Novartis) assume increasing stakes in this arena. In this content, we will explore the clinical and commercial potential of gene therapies in key therapeutic areas (i.e., neurology, ophthalmology, and hematology).
QUESTIONS ANSWERED
- What are the sizes of the eligible populations for gene therapies in key indications in the G7?
- What are the key advantages and disadvantages of marketed gene therapies, and where do clinicians want to see improvements?
- As potential single-administration cures, how will the treatment-eligible population change over time in indications served by a gene therapy?
- What are the key drivers of and barriers to the adoption of gene therapies?
- What type of clinical trial data will be necessary to support adoption and reimbursement of gene therapies?
- What is the clinical and commercial potential of emerging gene therapies in key indications (e.g., Duchenne muscular dystrophy, Leber hereditary optic neuropathy)?
GEOGRAPHIES
United States, EU5, Japan
PRIMARY RESEARCH
More than 25 country-specific interviews with thought-leading neurologists, ophthalmologists, and hematologists. Supported by survey data collected for this and other Clarivate research.
EPIDEMIOLOGY
Diagnosed prevalent and/or incident patient populations eligible for gene therapies in covered indications.
FORECAST
10-year, annualized, drug-level sales and patient share of key gene therapies through 2031, segmented by brands / generics, geography, and key indications.
EMERGING THERAPIES
Pipeline gene therapy coverage for select indications across therapy areas.
PRODUCT DESCRIPTION
Disease Landscape & Forecast provides comprehensive market intelligence with world-class epidemiology, keen insight into current treatment paradigms, in-depth pipeline assessments, and drug forecasts supported by detailed primary and secondary research.
SOLUTION ENHANCEMENT
Disease Landscape & Forecast will feature continual updates to provide timely insights and analyses as meaningful indication-specific news and events unfold.
Table of contents
- Rare Diseases And Orphan Drugs - Landscape & Forecast - Disease Landscape & Forecast
- Key findings
- Gene therapies for rare diseases key findings August 2023
- Key updates
- July 2023
- Q2 2023
- May 2023
- April 2023
- Q1 2023
- March 2023
- Q4 2022
- November 2022
- Q3 2022
- September 2022
- August 2022
- July 2022
- Market outlook
- Key findings
- Market share of gene therapies under study: 2021
- Market share of gene therapies under study: 2031
- Gene therapies SWOT analysis
- Market drivers and constraints
- What factors are driving the market for gene therapies?
- What factors are constraining the market for gene therapies?
- Gene therapy-specific trends
- Yearly and cumulative RPE65 patients treated with Luxturna in the major markets: 2021-2031
- Yearly and cumulative LHON patients treated with Lumevoq (GS010) in the major markets: 2021-2031
- Yearly and cumulative SMA patients treated with Zolgensma in the major markets: 2021-2031
- Yearly and cumulative DMD patients treated with gene therapy in the major markets: 2021-2031
- Yearly and cumulative beta thalassemia patients treated with Zynteglo in the major markets: 2021-2031
- Alternative market scenarios
- Alternative market scenarios: Zynteglo
- Alternative scenarios for beta thalassemia market through 2031
- Alternative market scenarios: SRP-9003
- Alternative scenarios for the muscular dystrophy market through 2031
- Key findings
- Forecast
- Market forecast assumptions for gene therapies for rare diseases (2021-2031) August 2023
- Market forecast dashboard gene therapies for rare diseases (2021-2031) August 2023
- Gene therapy technologies
- Monogenic diseases
- Major milestones in gene therapy development
- Key pathways and drug targets
- Gene therapy pipeline by therapy area (non-oncology)
- Gene therapy pipeline by phase of clinical development in non-oncology therapy areas
- Monogenic diseases
- Epidemiology
- Key findings
- Epidemiology populations
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of achromatopsia: 2021-2031
- Disease definition, methods, and sources used
- Subpopulations of achromatopsia: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of choroideremia: 2021-2031
- Drug-treatable prevalent cases of choroideremia: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of Leber hereditary optic neuropathy: 2021-2031
- Drug-treatable diagnosed prevalent cases of Leber hereditary optic neuropathy: 2021-2031
- Disease definition, methods, and sources used
- Subpopulations of Leber hereditary optic neuropathy: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of nonsyndromic retinitis pigmentosa: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of RPE65-associated Leber congenital amaurosis: 2021-2031
- Drug-treatable prevalent cases of RPE65-associated retinitis pigmentosa and Leber congenital amaurosis: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of RPE65-associated retinitis pigmentosa: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of Stargardt disease: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of X-linked retinitis pigmentosa: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of X-linked retinoschisis: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of X-linked retinoschisis with RS1 mutations: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed incident cases of Duchenne muscular dystrophy: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of Duchenne muscular dystrophy: 2021-2031
- Diagnosed drug-treatable prevalent cases of Duchenne muscular dystrophy: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of spinal muscular atrophy by type: 2021-2031
- Drug-treatable cases of spinal muscular atrophy by type: 2021-2031
- Disease definition, methods, and sources used
- Diagnosed prevalent cases of beta thalassemia: 2021-2031
- Drug-treated prevalent cases of beta thalassemia: 2021-2031
- Key findings
- Current treatment
- Diagnosis
- Diagnosis of genetic diseases
- Key challenges in developing gene therapies
- Developmental challenges
- Adoption challenges
- Inherited retinal diseases
- Select inherited retinal diseases
- Disease presentation of select inherited retinal diseases
- Diagnosis of inherited retinal diseases
- Current therapies
- Key results of select clinical trials investigating Luxturna for the treatment of patients with vision loss owing to RPE65 mutation
- Ongoing clinical development of Luxturna
- Key ongoing clinical trials of Luxturna
- Expert insight: Luxturna
- Spinal muscular atrophy
- Overview
- Disease presentation
- Diagnosis of spinal muscular atrophy
- Advantages and disadvantages of spinal muscular atrophy therapies
- Key results of select clinical trials investigating Zolgensma for the treatment of spinal muscular atrophy
- Ongoing clinical development of Zolgensma
- Key ongoing clinical trials of Zolgensma
- Expert insight: Zolgensma
- Duchenne muscular dystrophy
- Overview
- Disease presentation
- Early signs and symptoms of Duchenne muscular dystrophy
- Stages of Duchenne muscular dystrophy
- Diagnosis of Duchenne muscular dystrophy
- Mechanism of action of key current drugs or drug classes used for muscular dystrophy
- Advantages and disadvantages of Duchenne muscular dystrophy therapies
- Key results of select clinical trials investigating Elevidys (SRP-9001) for the treatment of DMD patients
- Key ongoing clinical trials investigating Elevidys (SRP-9001) for the treatment of Duchenne muscular dystrophy
- Ongoing clinical development of Elevidys (SRP-9001)
- Expert insight: Elevidys (SRP-9001)
- Beta thalassemia
- Overview
- Disease presentation
- Diagnosis of beta thalassemia
- Advantages and disadvantages of therapies for beta thalassemia
- Administration process of Zynteglo
- Key results from select clinical trials investigating Zynteglo for the treatment of beta thalassemia
- Ongoing clinical development of Zynteglo
- Key ongoing clinical trials of Zynteglo in the treatment of beta thalassemia
- Expert insight: Zynteglo
- Guidelines for gene therapy development
- Guidelines for developing gene therapies
- Select regional guidelines for developing gene therapies
- Factors influencing the use of gene therapies
- Diagnosis
- Unmet need overview
- Current and future attainment of unmet needs in gene therapies
- Top unmet needs in gene therapy: current and future attainment
- Expert insight: unmet needs in gene therapy
- Emerging therapies
- Key findings
- Key emerging therapies
- Key gene therapies in development
- Estimated launch dates of key emerging gene therapies
- Key results from select clinical trials investigating Lumevoq for the treatment of LHON
- Key ongoing clinical trials of Lumevoq in the treatment of LHON
- Analysis of the clinical development program for Lumevoq
- Expert insight: Lumevoq
- Expectations for launch and sales opportunity of Lumevoq in LHON
- AGTC-501 profile
- Key ongoing clinical trials of AGTC-501 in the treatment of XLRP
- Analysis of the clinical development of AGTC-501 in XLRP
- Expert insight: AGTC-501
- Expectations for launch and sales opportunity of AGTC-501 in XLRP
- A004 profile
- Key ongoing clinical trials of A004 in the treatment of XLRP
- Analysis of the clinical development of A004 in XLRP
- Expert insight: A004
- Expectations for launch and sales opportunity of A004 in XLRP
- Expert insight: dystrophin-based gene therapies
- PF-06939926 profile
- Key ongoing clinical trials investigating PF-06939926 for the treatment of Duchenne muscular dystrophy
- Analysis of the clinical development program for PF-06939926
- Expert insight: PF-06939926
- Expectations for the launch and sales opportunity of PF-06939926 in Duchenne muscular dystrophy
- A comparison of the two most advanced dystrophin gene therapies in development for Duchenne muscular dystrophy
- SRP-9003 profile
- Key ongoing clinical trials investigating SRP-9003 for the treatment of limb-girdle muscular dystrophy
- Analysis of the clinical development program for SRP-9003
- Expert insight: SRP-9003
- Expectations for the launch and sales opportunity of SRP-9003 in limb-girdle muscular dystrophy
- Early-phase pipeline analysis
- Select gene therapies in early-phase development for inherited retinal diseases
- Select gene therapies in early-phase development for beta thalassemia and Duchenne muscular dystrophy
- Key discontinuations and failures of gene therapies in rare diseases
- Key deprioritizations of gene therapies in Duchenne muscular dystrophy
- Key deprioritizations of gene therapies in beta thalassemia
- Expert insight
- Key findings
- Access & reimbursement overview
- Key market access considerations for gene therapies
- Region-specific reimbursement practices
- General reimbursement environment: United States
- General reimbursement environment: EU5
- General reimbursement environment: Japan
- Appendix
- Gene therapies for rare diseases bibliography
- Abbreviations
- Key findings
Raina Priyadarshini, Ph.D., Lead Healthcare Research & Data Analyst, Infectious, Niche, and Rare Diseases. Dr. Priyadarshini trained as a molecular biologist; her research focused on the interplay between tumor suppressor proteins and oncoproteins. She received her doctorate from the National Institute of Immunology in New Delhi, India.
Nitin Karakapatla, B.D.S., M.P.H., Epidemiologist, Epidemiology. Prior to joining Clarivate, Mr. Karakapatla was a public health consultant for the Public Health Foundation of India. He holds a master’s degree in public health with biostatistics as a specialization from the Indian Institute of Public Health and a bachelor’s degree in dental surgery from Sri Sai College of Dental Surgery.